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Metadata
ID DOID:3191
Name nemaline myopathy
Definition A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.
http://en.wikipedia.org/wiki/Nemaline_myopathy, http://ghr.nlm.nih.gov/condition/nemaline-myopathy, https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract
Xrefs

GARD:12033

ICD10CM:G71.21

MESH:D017696

OMIM:PS161800

ORDO:607

SNOMEDCT_US_2023_03_01:75072002

UMLS_CUI:C0206157

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

Nemaline body disease [EXACT]

nemaline rod myopathy [EXACT]

rod body disease [EXACT]

rod myopathy [EXACT]

Parent Relationships

is_a congenital myopathy

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